Marfan syndrome in children

A child with Marfan syndrome should be seen at regular intervals by a paediatrician who will provide an overview and arrange referrals to other specialists where necessary.

Eyes should be examined at ages 6 months, 3 years, just prior to school entry and every 2 years up to age 11 years.

The heart should be monitored by echocardiograms at birth and annually thereafter to determine the need for and timing of preventive heart treatment.

Height should be measured annually and skeletal problems such as excessive height, scoliosis, concave or protruding chest bone, loose joints, and flat feet should be reported to a paediatrician for treatment.

Teeth may be problematic if the child is affected by dental crowding and a high-arched palate. Orthodontic referral may be required once all adult teeth are grown.

Marfan syndrome can affect a child’s psychosocial development. Children and adolescents with Marfan syndrome look and feel different and restrictions are imposed on them because of their poor eyesight, lax painful joints and cardiac problems. Even the games other children play are frequently too dangerous for children with Marfan syndrome. Children can also have particular problems with self-image and may suffer bullying or teasing at school if they have strong Marfanoid characteristics.

Parents, teachers and school staff should be aware of your child’s condition. We have worked with bullying charities, parents and schools to develop our Paediatric guide to Marfan syndrome which we hope you will find helpful.

For more information please download the Marfan Trust Paediatric Guide to Marfan syndrome.

Having children

Children of an affected parent have a 50:50 risk of inheriting Marfan syndrome. When planning pregnancy, if one partner has Marfan syndrome or there is a strong history of Marfan syndrome in the family, a gene mutation should be sought though referral to a regional genetic centre. Pre-pregnancy counselling advice will be provided. It is possible to avoid the 50:50 risk of an affected child through prenatal diagnosis or pre-implantation genetic diagnosis.

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